Paralogue Annotation for RYR2 residue 3280

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3280
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3280

No paralogue variants have been mapped to residue 3280 for RYR2.



RYR2PENNPE----RAEMCCTALNSEHMNTLLGN>I<LKIIYNNLGIDEGAWMKRLAVFSQPIINKV3310
RYR1PEAPPSALPAGAPPPCTAVTSDHLNSLLGN>I<LRIIVNNLGIDEASWMKRLAVFAQPIVSRA3349
RYR3PENLPP----STGPCCTKVTSEHLSLILGN>I<LKIINNNLGIDEASWMKRIAVYAQPIISKA3206
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I3280Tc.9839T>C Putative BenignSIFT:
Polyphen: